ClinVar Miner

List of variants reported as uncertain significance for EEC syndrome and related syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser) rs764892330
NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser) rs139773438
NM_003722.5(TP63):c.1528A>T (p.Met510Leu)
NM_004465.1(FGF10):c.144G>A (p.Glu48=) rs886060655
NM_004465.1(FGF10):c.186C>A (p.Ser62Arg) rs886060654
NM_004465.1(FGF10):c.426C>T (p.Gly142=) rs149851674
NM_004465.1(FGF10):c.541A>C (p.Asn181His) rs1332768200
NM_004465.1(FGF10):c.624A>G (p.Ser208=) rs886060653
NM_022970.3(FGFR2):c.*1070T>C rs886046761
NM_022970.3(FGFR2):c.*1126T>C rs370106008
NM_022970.3(FGFR2):c.*1287A>C rs886046760
NM_022970.3(FGFR2):c.*1369C>T rs886046759
NM_022970.3(FGFR2):c.*1402T>C rs886046758
NM_022970.3(FGFR2):c.*1489C>T rs886046757
NM_022970.3(FGFR2):c.*497T>C rs3135827
NM_022970.3(FGFR2):c.*674G>T rs566155088
NM_022970.3(FGFR2):c.*736dup rs886046762
NM_022970.3(FGFR2):c.-128G>A rs547739869
NM_022970.3(FGFR2):c.-129C>T rs886046765
NM_022970.3(FGFR2):c.-165G>A rs886046766
NM_022970.3(FGFR2):c.-371C>T rs527570655
NM_022970.3(FGFR2):c.-535G>C rs886046767
NM_022970.3(FGFR2):c.-622G>A rs886046768
NM_022970.3(FGFR2):c.1087+1268G>A rs199757302
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1182A>T (p.Val394=) rs886046763
NM_022970.3(FGFR2):c.1542C>A (p.Thr514=) rs74160617
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2419G>A (p.Glu807Lys) rs764959117
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764

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